Showing results (1-10 of 12) with videos related to
Sort By:
Pageof 2
The British Journal of Ophthalmology|November 13, 2012
Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish familyMarkus Ritter, Julia Vodopiutz, Silvia Lechner, et al.American Journal of Ophthalmology|February 24, 2006
A new, X-linked endothelial corneal dystrophyEduard Schmid, Walter Lisch, Wolfgang Philipp, et al.European Journal of Medical Research|March 4, 2018
Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikelyChristian Niederwanger, Silvia Lechner, Lisa König, et al.Neuroscience Letters|May 4, 2002
A new pneumatic vibrator for functional magnetic resonance imaging of the human sensorimotor cortexStefan M Golaszewski, Fritz Zschiegner, Christian M Siedentopf, et al.Human Molecular Genetics|May 25, 2013
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndromeThomas Müller, Shuji Mizumoto, Indrajit Suresh, et al.Journal of Pediatric Gastroenterology and Nutrition|June 23, 2011
Significance of molecular testing for congenital chloride diarrheaSilvia Lechner, Frank M Ruemmele, Andreas Zankl, et al.Traffic (Copenhagen, Denmark)|October 22, 2013
Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarityCornelia E Thoeni, Georg F Vogel, Ivan Tancevski, et al.Pediatrics|September 12, 2012
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutationsEva Morava, Julia Vodopiutz, Dirk J Lefeber, et al.Nature Genetics|August 30, 2008
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarityThomas Müller, Michael W Hess, Natalia Schiefermeier, et al.Human Mutation|February 27, 2010
Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell modelFrank M Ruemmele, Thomas Müller, Natalia Schiefermeier, et al.Pageof 2